rs1568718508, RIN2

N. diseases: 6
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
Edema of eyelid
CUI: C0162285
Disease: Edema of eyelid
1 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
3 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
Sparse eyebrow
CUI: C1832446
Disease: Sparse eyebrow
6 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0